ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827277019
Gene: LIPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438640
ClinVar RCV Id:
RCV000505526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316870.1:p.Leu30Pro
CA224979330
NM_001329941.2:c.89T>C